"Color Diagnostics, LLC DBA Color Health"[submitter] AND "RB1"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 193082	NM_000321.3(RB1):c.45_53del (p.Ala16_Ala18del)	RB1	Deletion (inframe_deletion)	Retinoblastoma +4 more	GBenign
Select item 237673	NM_000321.3(RB1):c.42C>T (p.Ala14=)	RB1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 823685	NM_000321.3(RB1):c.337A>C (p.Met113Leu)	RB1 (M113L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 41684	NM_000321.3(RB1):c.411A>T (p.Glu137Asp)	RB1 (E137D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 1156231	NM_000321.3(RB1):c.549T>C (p.Thr183=)	RB1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 825848	NM_000321.3(RB1):c.560C>T (p.Ser187Phe)	RB1 (S187F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2774209	NM_000321.3(RB1):c.616T>A (p.Leu206Ile)	RB1 (L206I)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 41685	NM_000321.3(RB1):c.628G>T (p.Asp210Tyr)	RB1 (D210Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 312288	NM_000321.3(RB1):c.1140C>T (p.Asn380=)	RB1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 421552	NM_000321.3(RB1):c.1268G>A (p.Gly423Glu)	RB1 (G423E)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 167566	NM_000321.3(RB1):c.1390-14A>T	RB1	Single nucleotide variant (intron variant)	Retinoblastoma +3 more	GBenign
Select item 255821	NM_000321.3(RB1):c.1390-11A>G	RB1	Single nucleotide variant (intron variant)	Retinoblastoma +3 more	GConflicting classifications of pathogenicity
Select item 2774210	NM_000321.3(RB1):c.1450A>G (p.Met484Val)	RB1 (M484V)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 312291	NM_000321.3(RB1):c.1707A>G (p.Leu569=)	RB1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 237666	NM_000321.3(RB1):c.1961-12T>C	RB1	Single nucleotide variant (intron variant)	Retinoblastoma +3 more	GBenign/Likely benign
Select item 41683	NM_000321.3(RB1):c.1966C>T (p.Arg656Trp)	RB1	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 1583345	NM_000321.3(RB1):c.2107-13A>C	RB1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 458152	NM_000321.3(RB1):c.2517C>T (p.Phe839=)	RB1	Single nucleotide variant (synonymous variant)	Retinoblastoma +1 more	GLikely benign
Select item 312296	NM_000321.3(RB1):c.2521-11G>A	RB1	Single nucleotide variant (intron variant)	Retinoblastoma +3 more	GBenign/Likely benign
Select item 92843	NM_000321.3(RB1):c.2664-10T>A	RB1	Single nucleotide variant (intron variant)	Retinoblastoma +2 more	GBenign

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Items: 20